Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

Neuromuscular Disorders

Volumn 8, Issue 2, 1998, Pages 72-76

  Muntoni, Francesco ^a   Lichtarowicz Krynska, Ewa J ^a   Sewry, Caroline A ^a,b   Manilal, Sushila ^c   Recan, Dominique ^d   Llense, Stephane ^d   Taylor, Jacqueline ^a   Morris, Glenn E ^c   Dubowitz, Victor ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^c GLYNDWR UNIVERSITY   (United Kingdom)

^d Hôpital Cochin ^*  (France)

Author keywords

Emerin; Emery Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; X linked

Indexed keywords

CREATINE KINASE; DYSTROPHIN; EMERIN; MUSCLE PROTEIN; NUCLEAR PROTEIN; SARCOGLYCAN; UNCLASSIFIED DRUG;

ACHILLES TENDON; ADULT; ANAMNESIS; ARTICLE; BACK MUSCLE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; DUCHENNE MUSCULAR DYSTROPHY; ELBOW; EXON; GENE DELETION; GENETIC DISORDER; HETEROZYGOTE DETECTION; HUMAN; LEUKOCYTE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; ONSET AGE; PES EQUINOVARUS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SPINE MALFORMATION; X CHROMOSOME LINKAGE;

AGE OF ONSET; BIOPSY; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HUMANS; LEUKOCYTES; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUSCLES; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; SKIN; THYMOPOIETINS; X CHROMOSOME;

EID: 0032055274     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00006-6     Document Type: Article

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