Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

American Journal of Medical Genetics

Volumn 140 A, Issue 4, 2006, Pages 322-330

  Mehta, Sarju G ^a   Watts, Giles D J ^a   McGillivray, Barbara ^b   Mumm, Steven ^c   Hamilton, Sara Jane ^b   Ramdeen, Sheena ^a   Novack, Deborah ^c   Briggs, Christine ^a   Whyte, Michael P ^c   Kimonis, Virginia E ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Adult onset myopathy; Bone fragility; Coagulopathy; Fibrous dysplasia; Fractures; Hereditary inclusion body myopathy (HIBM); Limb girdle myopathy; Myopathy; Osteosarcoma; Paget disease of bone (PDB); Premature graying

Indexed keywords

ALKALINE PHOSPHATASE; CREATINE KINASE;

ADULT; AGING; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOCHEMISTRY; BLOOD CLOTTING DISORDER; BONE FRAGILITY; BONE RADIOGRAPHY; CHROMOSOME 9P; CHROMOSOME 9Q; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAM; FAMILY; FEMALE; FIBROUS DYSPLASIA; FRACTURE; FRACTURE HEALING; FRONTOTEMPORAL DEMENTIA; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HAIR COLOR; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LINKAGE ANALYSIS; MALE; MUSCLE BIOPSY; NERVE CONDUCTION; ONSET AGE; PAGET BONE DISEASE; PRIORITY JOURNAL; RADIOLOGY; SKINFOLD THICKNESS; VALOSIN CONTAINING PROTEIN GENE;

ADULT; AGE OF ONSET; AGED; ALKALINE PHOSPHATASE; CHROMOSOMES, HUMAN, PAIR 9; CREATINE KINASE; FEMALE; FRACTURES, BONE; GENES, DOMINANT; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE;

EID: 32444436704     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31008     Document Type: Article

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