Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)

Neuromuscular Disorders

Volumn 14, Issue 8-9, 2004, Pages 471-475

  Ohlsson, M ^a   Tajsharghi, H ^a   Darin, N ^a   Kyllerman, M ^a   Oldfors, A ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Actin; ACTA1; Missense mutation; Nemaline myopathy; NM

Indexed keywords

ALPHA ACTIN; FAT;

ADOLESCENT; ANAMNESIS; ARTICLE; ASSISTED VENTILATION; CASE REPORT; CLINICAL FEATURE; CONNECTIVE TISSUE; DISEASE COURSE; FEEDING; FEMALE; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE DISEASE; MUSCLE HYPOTONIA; MUSCLE TISSUE; MUSCLE WEAKNESS; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SKELETAL MUSCLE; WHEELCHAIR;

ACTINS; ASPARTIC ACID; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOLLOW-UP STUDIES; GLUTAMIC ACID; GLYCINE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; LYSINE; MALE; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE;

EID: 4344703840     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.05.016     Document Type: Article

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