Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: Identification of a second LIM domain mutation in FHL1

Neuropediatrics

Volumn 41, Issue 1, 2010, Pages 43-46

  Schessl, J ^a,b   Columbus, A ^b   Hu, Y ^b   Zou, Y ^b   Voit, T ^c   Goebel, H H ^d   Bonnemann C G ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c SORBONNE UNIVERSITÉ   (France)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

aggresomes; FHL1; LIM; reducing body myopathy; X linked myopathy

Indexed keywords

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REDUCING BODY MYOPATHY; RIGIDITY; SPINE DISEASE; ADULT; CYTOPLASM; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; GERMANY; MIDDLE AGED; MUSCLE DISEASE; MUTATION; PATHOLOGY; SKELETAL MUSCLE; ULTRASTRUCTURE;

FHL1 PROTEIN, HUMAN; LIM PROTEIN; MUSCLE PROTEIN; SIGNAL PEPTIDE;

ADULT; CYTOPLASM; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION;

EID: 77953815554     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0030-1254101     Document Type: Article

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