Homozygous Lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive emery dreifuss muscular dystrophy

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 265-268

  Wiltshire, Katie M ^a   Hegele, Robert A ^b   Innes, A Micheil ^a   Brownell, A Keith W ^a  

^a UNIVERSITY OF CALGARY   (Canada)

^b WESTERN UNIVERSITY   (Canada)

Author keywords

Emery dreifuss muscular dystrophy; Familial partial lipodystrophy; Hutterite; Lamin A C mutation; Neuromuscular

Indexed keywords

LAMIN A; LAMIN C; LMNA PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHRONIC ATRIAL FIBRILLATION; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; FEMALE; FLEXION CONTRACTURE; GENE; GENE MUTATION; GENETIC SCREENING; HEART DISEASE; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; HYPERTENSION; LIMB WEAKNESS; LORDOSIS; LUNG DISEASE; MALE; MICROGNATHIA; MUSCLE BIOPSY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSICAL EXAMINATION; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROGERIA; PTOSIS; R482Q GENE; SCHOOL CHILD; SCOLIOSIS; YOUNG ADULT; CANADA; GENETICS; HETEROZYGOTE; MUTATION; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE;

ALBERTA; CHILD; DISEASE PROGRESSION; FEMALE; HETEROZYGOTE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY, FAMILIAL PARTIAL; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 85027937945     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.11.011     Document Type: Article

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