Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

Neuromuscular Disorders

Volumn 9, Issue 3, 1999, Pages 159-165

  Yates, John R W ^a   Bagshaw, Jane ^b   Aksmanovic, Veronica M A ^a,b   Coomber, Ellen ^b   McMahon, Robert ^b   Whittaker, Joanne L ^b   Morrison, Patrick J ^c   Kendrick Jones, John ^d   Ellis, Juliet A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c BELFAST CITY HOSPITAL   (United Kingdom)

^d MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

Cardiac disease; Emerin; Emery Dreifuss muscular dystrophy; Muscle disease; Mutation detection; X chromosome

Indexed keywords

EMERIN;

ADULT; ARTICLE; CHILD; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENOTYPE; HEART DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE WEAKNESS; MUTATION; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME;

AMINO ACID SUBSTITUTION; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROLINE; THREONINE; THYMOPOIETINS; X CHROMOSOME;

EID: 0032808818     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00121-7     Document Type: Article

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