Autosomal dominant Emery-Dreifuss muscular dystrophy: A new family with late diagnosis

Neuromuscular Disorders

Volumn 12, Issue 1, 2002, Pages 19-25

  Colomer, J ^a   Iturriaga, C ^a   Bonne, G ^b   Schwartz, K ^b   Manilal, S ^c   Morris, G E ^c   Puche, M ^d   Fernandez Alvarez E ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b INSERM U523 Institut de Myologie   (Spain)

^c GLYNDWR UNIVERSITY   (United Kingdom)

^d Pathology Department Hospital Virgen Arreixaca   (Spain)

Author keywords

Autosomal dominant Emery Dreifuss muscular dystrophy; Contractures; Lamin A C; Myocardiopathy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE COURSE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE CONTRACTURE; MUSCLE HYPERTROPHY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; PES EQUINOVARUS; PRIORITY JOURNAL; SCHOOL CHILD; SPAIN; SPINE DISEASE;

ACHILLES TENDON; ADOLESCENT; BIOPSY; CARDIOMYOPATHIES; CHILD; CONTRACTURE; ELBOW JOINT; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HUMANS; LAMINS; MIDDLE AGED; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPINE;

EID: 0036133109     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00239-5     Document Type: Article

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