Autosomal recessive inheritance of classic Bethlem myopathy

Neuromuscular Disorders

Volumn 19, Issue 12, 2009, Pages 813-817

  Foley, A Reghan ^a   Hu, Ying ^a   Zou, Yaqun ^a   Columbus, Alexandra ^a   Shoffner, John ^b   Dunn, Diane M ^c   Weiss, Robert B ^c   Bönnemann, Carsten G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Medical Neurogenetics   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal recessive inheritance; Bethlem myopathy; COL6A2; Collagen VI

Indexed keywords

ARGININE; COLLAGEN TYPE 6; TRYPTOPHAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BETHLEM MYOPATHY; CASE REPORT; CONTRACTURE; EXON; GAIT DISORDER; GENE DELETION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MYOPATHY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; TENDON SURGERY;

ADULT; AMINO ACID SEQUENCE; COLLAGEN TYPE VI; DERMIS; EXONS; FIBROBLASTS; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 70449522888     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.09.010     Document Type: Article

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