Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

Neurology

Volumn 64, Issue 4, 2005, Pages 636-642

  Udd, B ^a,b   Vihola, A ^a,c   Sarparanta, J ^c   Richard, I ^d   Hackman, P ^c  

^a VAASA CENTRAL HOSPITAL   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CONSANGUINITY; DISTAL MYOPATHY; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LEG MUSCLE; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 13844311060     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000151853.50144.82     Document Type: Article

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