Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Brain

Volumn 132, Issue 2, 2009, Pages 452-464

  Schessl, Joachim ^a   Taratuto, Ana L ^b   Sewry, Caroline ^c,d   Battini, Roberta ^e   Chin, Steven S ^f   Maiti, Baijayanta ^f   Dubrovsky, Alberto L ^g   Erro, Marcela G ^h   Espada, Graciela ^h   Robertella, Monica ^b   Saccoliti, Maria ^b   Olmos, Patricia ⁱ   Bridges, Leslie R ^j   Standring, Peter ^k   Hu, Ying ^a   Zou, Yaqun ^a   Swoboda, Kathryn J ^f   Scavina, Mena ^l   Goebel, Hans Hilmar ^m   Mitchell, Christina A ⁿ   Flanigan, Kevin M ^f   Muntoni, Francesco ^c   Bönnemann, Carsten G ^a,o   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b FLENI   (Argentina)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^e DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

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

^g HOSPITAL UNIVERSITARIO FUNDACIÓN FAVALORO   (Argentina)

^h HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

ⁱ Churruca Visca Hospital   (Argentina)

^j UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^k Department of Pediatrics   (United Kingdom)

^l NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^m JOHANNES GUTENBERG UNIVERSITY   (Germany)

ⁿ MONASH UNIVERSITY   (Australia)

^o CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

Aggresomes; FHL1; LIM; Reducing body myopathy; X linked

Indexed keywords

LIM KINASE; MENADIONE; NITROBLUE TETRAZOLIUM; PROTEIN FHL1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CAUSAL ATTRIBUTION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; DISEASE COURSE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; REDUCING BODY MYOPATHY; X CHROMOSOME;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MICROSCOPY, IMMUNOELECTRON; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION, MISSENSE; PEDIGREE;

EID: 60149106395     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn325     Document Type: Article

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