DOI: 10.1086/302252. Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7

Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7

10.1086/302252

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Speer, M. C., Vance, J. M., Grubber, J. M., Lennon Graham, F., Stajich, J. M., Viles, K. D., Rogala, A., McMichael, R., Chutkow, J., Goldsmith, C., Tim, R. W., & Pericak-Vance, M. A. (1999). Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7. The American Journal of Human Genetics, 64(2), 556â562.

Authors 12

Marcy C. Speer (first)
Jeffery M. Vance (additional)
Janet M. Grubber (additional)
Felicia Lennon Graham (additional)
Jeffrey M. Stajich (additional)
Kristi D. Viles (additional)
Allison Rogala (additional)
Robert McMichael (additional)
Jerry Chutkow (additional)
Claire Goldsmith (additional)
Richard W. Tim (additional)
Margaret A. Pericak-Vance (additional)

References 25 Referenced 58

10.1093/hmg/3.3.455 / Hum Mol Genet / A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p by Bashir (1994)
{'key': '10.1086/302252_bib2', 'first-page': '141', 'article-title': 'A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage analysis', 'volume': '312', 'author': 'Beckmann', 'year': '1991', 'journal-title': 'C R Acad Sci III'} / C R Acad Sci III / A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage analysis by Beckmann (1991)
{'key': '10.1086/302252_bib3', 'first-page': '513', 'article-title': 'Estimating the power of a proposed linkage study: a practical computer simulation approach', 'volume': '39', 'author': 'Boehnke', 'year': '1986', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Estimating the power of a proposed linkage study: a practical computer simulation approach by Boehnke (1986)
10.1038/ng1195-266 / Nat Genet / β−Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex by Bonnemann (1995)
10.1002/ana.410200210 / Ann Neurol / Adult-onset autosomal dominant limb-girdle muscular dystrophy by Chutkow (1986)
10.1212/WNL.38.1.5 / Neurology / Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy by Gilchrist (1988)
{'key': '10.1086/302252_bib7', 'first-page': 'A193', 'article-title': 'PEDIGENE: a comprehensive data management system to facilitate efficient and rapid disease gene mapping', 'volume': '57', 'author': 'Haynes', 'year': '1995', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / PEDIGENE: a comprehensive data management system to facilitate efficient and rapid disease gene mapping by Haynes (1995)
10.1542/peds.41.2.495 / Pediatrics / Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease by Jackson (1968)
10.1038/1682 / Nat Genet / Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy by Liu (1998)
10.1093/hmg/7.5.871 / Hum Mol Genet / Caveolin-3 in muscular dystrophy by McNally (1998)
10.1086/514896 / Am J Hum Genet / Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23 by Messina (1997)
10.1038/ng0498-365 / Nat Genet / Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy by Minetti (1998)
10.1086/513889 / Am J Hum Genet / The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12 by Moreira (1997)
{'key': '10.1086/302252_bib14', 'first-page': '360', 'article-title': 'Formal genetics of muscular dystrophy', 'volume': '11', 'author': 'Morton', 'year': '1959', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Formal genetics of muscular dystrophy by Morton (1959)
10.1126/science.270.5237.819 / Science / Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy by Noguchi (1995)
{'key': '10.1086/302252_bib16', 'series-title': 'Analysis of human genetic linkage', 'author': 'Ott', 'year': '1991'} / Analysis of human genetic linkage by Ott (1991)
{'key': '10.1086/302252_bib17', 'first-page': '543', 'article-title': 'Estimating the power of a proposed linkage study for a complex genetic trait', 'volume': '44', 'author': 'Ploughman', 'year': '1989', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Estimating the power of a proposed linkage study for a complex genetic trait by Ploughman (1989)
10.1016/0002-9343(69)90040-0 / Am J Med / Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly by Schneiderman (1969)
10.1111/j.1399-0004.1976.tb01568.x / Clin Genet / Autosomal recessive muscular dystrophy in Manitoba Hutterites by Shokeir (1976)
{'key': '10.1086/302252_bib20', 'first-page': '1371', 'article-title': 'Evidence for locus heterogeneity in autosomal dominant limb- girdle muscular dystrophy', 'volume': '57', 'author': 'Speer', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Evidence for locus heterogeneity in autosomal dominant limb- girdle muscular dystrophy by Speer (1995)
{'key': '10.1086/302252_bib21', 'first-page': '1211', 'article-title': 'Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q', 'volume': '50', 'author': 'Speer', 'year': '1992', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q by Speer (1992)
{'key': '10.1086/302252_bib23', 'series-title': 'Design and implementation of mapping studies for complex human diseases', 'article-title': 'The collection of biological samples for DNA analysis', 'author': 'Vance', 'year': '1998'} / Design and implementation of mapping studies for complex human diseases / The collection of biological samples for DNA analysis by Vance (1998)
{'key': '10.1086/302252_bib22', 'first-page': '891', 'article-title': 'Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21', 'volume': '60', 'author': 'van der Kooi', 'year': '1997', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21 by van der Kooi (1997)
{'key': '10.1086/302252_bib24', 'first-page': '1506', 'article-title': 'Computer programs for multilocus haplotyping of general pedigrees', 'volume': '56', 'author': 'Weeks', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Computer programs for multilocus haplotyping of general pedigrees by Weeks (1995)
10.1136/jmg.22.4.250 / J Med Genet / A population study of adult onset limb-girdle muscular dystrophy by Yates (1985)

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 2:47 p.m.)
Deposited	2 years, 4 months ago (April 22, 2023, 7:05 p.m.)
Indexed	1 year, 5 months ago (March 28, 2024, 1:17 p.m.)
Issued	26 years, 6 months ago (Feb. 1, 1999)
Published	26 years, 6 months ago (Feb. 1, 1999)
Published Print	26 years, 6 months ago (Feb. 1, 1999)

Funders 0

None

BibTeX

@article{Speer_1999, title={Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7}, volume={64}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/302252}, DOI={10.1086/302252}, number={2}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Speer, Marcy C. and Vance, Jeffery M. and Grubber, Janet M. and Lennon Graham, Felicia and Stajich, Jeffrey M. and Viles, Kristi D. and Rogala, Allison and McMichael, Robert and Chutkow, Jerry and Goldsmith, Claire and Tim, Richard W. and Pericak-Vance, Margaret A.}, year={1999}, month=feb, pages={556–562} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2024,
        3,
        28
      ]
    ],
    "date-time": "2024-03-28T17:17:01Z",
    "timestamp": 1711646221735
  },
  "reference-count": 25,
  "publisher": "Elsevier BV",
  "issue": "2",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            1999,
            2,
            1
          ]
        ],
        "date-time": "1999-02-01T00:00:00Z",
        "timestamp": 917827200000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://www.elsevier.com/tdm/userlicense/1.0/"
    },
    {
      "start": {
        "date-parts": [
          [
            2013,
            7,
            19
          ]
        ],
        "date-time": "2013-07-19T00:00:00Z",
        "timestamp": 1374192000000
      },
      "content-version": "vor",
      "delay-in-days": 5282,
      "URL": "https://www.elsevier.com/open-access/userlicense/1.0/"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1999,
        2
      ]
    ]
  },
  "DOI": "10.1086/302252",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2002,
        7,
        26
      ]
    ],
    "date-time": "2002-07-26T18:47:41Z",
    "timestamp": 1027709261000
  },
  "page": "556-562",
  "source": "Crossref",
  "is-referenced-by-count": 58,
  "title": "Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7",
  "prefix": "10.1016",
  "volume": "64",
  "author": [
    {
      "given": "Marcy C.",
      "family": "Speer",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Jeffery M.",
      "family": "Vance",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Janet M.",
      "family": "Grubber",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Felicia",
      "family": "Lennon Graham",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Jeffrey M.",
      "family": "Stajich",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Kristi D.",
      "family": "Viles",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Allison",
      "family": "Rogala",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Robert",
      "family": "McMichael",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Jerry",
      "family": "Chutkow",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Claire",
      "family": "Goldsmith",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Richard W.",
      "family": "Tim",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Margaret A.",
      "family": "Pericak-Vance",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "78",
  "reference": [
    {
      "key": "10.1086/302252_bib1",
      "doi-asserted-by": "crossref",
      "first-page": "455",
      "DOI": "10.1093/hmg/3.3.455",
      "article-title": "A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p",
      "volume": "3",
      "author": "Bashir",
      "year": "1994",
      "journal-title": "Hum Mol Genet"
    },
    {
      "key": "10.1086/302252_bib2",
      "first-page": "141",
      "article-title": "A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage analysis",
      "volume": "312",
      "author": "Beckmann",
      "year": "1991",
      "journal-title": "C R Acad Sci III"
    },
    {
      "key": "10.1086/302252_bib3",
      "first-page": "513",
      "article-title": "Estimating the power of a proposed linkage study: a practical computer simulation approach",
      "volume": "39",
      "author": "Boehnke",
      "year": "1986",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib4",
      "doi-asserted-by": "crossref",
      "first-page": "266",
      "DOI": "10.1038/ng1195-266",
      "article-title": "\u03b2\u2212Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex",
      "volume": "11",
      "author": "Bonnemann",
      "year": "1995",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1086/302252_bib5",
      "doi-asserted-by": "crossref",
      "first-page": "240",
      "DOI": "10.1002/ana.410200210",
      "article-title": "Adult-onset autosomal dominant limb-girdle muscular dystrophy",
      "volume": "20",
      "author": "Chutkow",
      "year": "1986",
      "journal-title": "Ann Neurol"
    },
    {
      "key": "10.1086/302252_bib6",
      "doi-asserted-by": "crossref",
      "first-page": "5",
      "DOI": "10.1212/WNL.38.1.5",
      "article-title": "Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy",
      "volume": "38",
      "author": "Gilchrist",
      "year": "1988",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1086/302252_bib7",
      "first-page": "A193",
      "article-title": "PEDIGENE: a comprehensive data management system to facilitate efficient and rapid disease gene mapping",
      "volume": "57",
      "author": "Haynes",
      "year": "1995",
      "journal-title": "Am J Hum Genet Suppl"
    },
    {
      "key": "10.1086/302252_bib8",
      "doi-asserted-by": "crossref",
      "first-page": "495",
      "DOI": "10.1542/peds.41.2.495",
      "article-title": "Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease",
      "volume": "41",
      "author": "Jackson",
      "year": "1968",
      "journal-title": "Pediatrics"
    },
    {
      "key": "10.1086/302252_bib9",
      "doi-asserted-by": "crossref",
      "first-page": "31",
      "DOI": "10.1038/1682",
      "article-title": "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy",
      "volume": "20",
      "author": "Liu",
      "year": "1998",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1086/302252_bib10",
      "doi-asserted-by": "crossref",
      "first-page": "871",
      "DOI": "10.1093/hmg/7.5.871",
      "article-title": "Caveolin-3 in muscular dystrophy",
      "volume": "7",
      "author": "McNally",
      "year": "1998",
      "journal-title": "Hum Mol Genet"
    },
    {
      "key": "10.1086/302252_bib11",
      "doi-asserted-by": "crossref",
      "first-page": "909",
      "DOI": "10.1086/514896",
      "article-title": "Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23",
      "volume": "61",
      "author": "Messina",
      "year": "1997",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib12",
      "doi-asserted-by": "crossref",
      "first-page": "365",
      "DOI": "10.1038/ng0498-365",
      "article-title": "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy",
      "volume": "18",
      "author": "Minetti",
      "year": "1998",
      "journal-title": "Nat Genet"
    },
    {
      "key": "10.1086/302252_bib13",
      "doi-asserted-by": "crossref",
      "first-page": "151",
      "DOI": "10.1086/513889",
      "article-title": "The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12",
      "volume": "61",
      "author": "Moreira",
      "year": "1997",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib14",
      "first-page": "360",
      "article-title": "Formal genetics of muscular dystrophy",
      "volume": "11",
      "author": "Morton",
      "year": "1959",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib15",
      "doi-asserted-by": "crossref",
      "first-page": "819",
      "DOI": "10.1126/science.270.5237.819",
      "article-title": "Mutations in the dystrophin-associated protein \u03b3-sarcoglycan in chromosome 13 muscular dystrophy",
      "volume": "270",
      "author": "Noguchi",
      "year": "1995",
      "journal-title": "Science"
    },
    {
      "key": "10.1086/302252_bib16",
      "series-title": "Analysis of human genetic linkage",
      "author": "Ott",
      "year": "1991"
    },
    {
      "key": "10.1086/302252_bib17",
      "first-page": "543",
      "article-title": "Estimating the power of a proposed linkage study for a complex genetic trait",
      "volume": "44",
      "author": "Ploughman",
      "year": "1989",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib18",
      "doi-asserted-by": "crossref",
      "first-page": "380",
      "DOI": "10.1016/0002-9343(69)90040-0",
      "article-title": "Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly",
      "volume": "46",
      "author": "Schneiderman",
      "year": "1969",
      "journal-title": "Am J Med"
    },
    {
      "key": "10.1086/302252_bib19",
      "doi-asserted-by": "crossref",
      "first-page": "197",
      "DOI": "10.1111/j.1399-0004.1976.tb01568.x",
      "article-title": "Autosomal recessive muscular dystrophy in Manitoba Hutterites",
      "volume": "9",
      "author": "Shokeir",
      "year": "1976",
      "journal-title": "Clin Genet"
    },
    {
      "key": "10.1086/302252_bib20",
      "first-page": "1371",
      "article-title": "Evidence for locus heterogeneity in autosomal dominant limb- girdle muscular dystrophy",
      "volume": "57",
      "author": "Speer",
      "year": "1995",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib21",
      "first-page": "1211",
      "article-title": "Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q",
      "volume": "50",
      "author": "Speer",
      "year": "1992",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib23",
      "series-title": "Design and implementation of mapping studies for complex human diseases",
      "article-title": "The collection of biological samples for DNA analysis",
      "author": "Vance",
      "year": "1998"
    },
    {
      "key": "10.1086/302252_bib22",
      "first-page": "891",
      "article-title": "Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21",
      "volume": "60",
      "author": "van der Kooi",
      "year": "1997",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib24",
      "first-page": "1506",
      "article-title": "Computer programs for multilocus haplotyping of general pedigrees",
      "volume": "56",
      "author": "Weeks",
      "year": "1995",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "10.1086/302252_bib25",
      "doi-asserted-by": "crossref",
      "first-page": "250",
      "DOI": "10.1136/jmg.22.4.250",
      "article-title": "A population study of adult onset limb-girdle muscular dystrophy",
      "volume": "22",
      "author": "Yates",
      "year": "1985",
      "journal-title": "J Med Genet"
    }
  ],
  "container-title": "The American Journal of Human Genetics",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://api.elsevier.com/content/article/PII:S0002929707617613?httpAccept=text/xml",
      "content-type": "text/xml",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://api.elsevier.com/content/article/PII:S0002929707617613?httpAccept=text/plain",
      "content-type": "text/plain",
      "content-version": "vor",
      "intended-application": "text-mining"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2023,
        4,
        22
      ]
    ],
    "date-time": "2023-04-22T23:05:39Z",
    "timestamp": 1682204739000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://linkinghub.elsevier.com/retrieve/pii/S0002929707617613"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1999,
        2
      ]
    ]
  },
  "references-count": 25,
  "journal-issue": {
    "issue": "2",
    "published-print": {
      "date-parts": [
        [
          1999,
          2
        ]
      ]
    }
  },
  "alternative-id": [
    "S0002929707617613"
  ],
  "URL": "http://dx.doi.org/10.1086/302252",
  "relation": {},
  "ISSN": [
    "0002-9297"
  ],
  "subject": [],
  "container-title-short": "The American Journal of Human Genetics",
  "published": {
    "date-parts": [
      [
        1999,
        2
      ]
    ]
  }
}