Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

Neuromuscular Disorders

Volumn 8, Issue 7, 1998, Pages 495-501

  Naom, I ^a   D'Alessandro, M ^a   Sewry, C A ^a   Philpot, J ^a   Manzur, A Y ^a   Dubowitz, V ^a   Muntoni, F ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Congenital muscular dystrophy; Laminin 2 chain; Limb girdle muscular dystrophy; Merosin

Indexed keywords

DYSTROPHIN; LAMININ; MEROSIN;

ARTICLE; BRAIN; CASE REPORT; CHILD; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

BASE SEQUENCE; BIOPSY; BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FAMILY HEALTH; FEMALE; HUMANS; LAMININ; MAGNETIC RESONANCE IMAGING; MALE; MUSCLES; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION;

EID: 0032192272     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00065-0     Document Type: Article

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