Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

Genetics in Medicine

Volumn 2, Issue 4, 2000, Pages 232-241

  Kimonis, Virginia E ^a   Kovach, Margaret J ^a   Waggoner, Brook ^a   Leal, Suzanne ^a,b,c   Salam, Ambar ^a,b,c   Rimer, Lisa ^d   Davis, Katherine ^a   Khardori, Romesh ^d   Gelber, David ^d  

^a SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

^c Dayton Children's Hospital   (United States)

^d Southern Illinois University School of Medicine ^*

Author keywords

Autosomal dominant; Limb girdle muscular dystrophy; Paget disease of bone; Vacuolar myopathy

Indexed keywords

CREATINE KINASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CARDIOPULMONARY INSUFFICIENCY; CELL VACUOLE; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; ONSET AGE; PAGET BONE DISEASE;

EID: 0034532113     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200007000-00006     Document Type: Article

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