Novel FHL1 mutation in a family with reducing body myopathy

Muscle and Nerve

Volumn 47, Issue 1, 2013, Pages 127-134

  Schreckenbach, Tobias ^a,b   Henn, Wolfram ^c   Kress, Wolfram ^d   Roos, Andreas ^a,b   Maschke, Matthias ^e   Feiden, Wolfgang ^c,e   Dillmann, Ulrich ^c   Schulz, Jörg B ^a,b   Weis, Joachim ^a,b   Claeys, Kristl G ^a,b  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b Translational Brain Medicine   (Germany)

^c SAARLAND UNIVERSITY   (Germany)

^d Institute for Human Genetics   (Germany)

^e Institute for Human Genetics ^*  (Germany)

Author keywords

Four and a half LIM domain 1 protein; Genotype phenotype correlations; Muscle inclusions; RBM; Reducing bodies

Indexed keywords

FOUR AND A HALF LIM DOMAIN 1 PROTEIN; LIM PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEATH; FEMALE; GENETIC ANALYSIS; HEART FAILURE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; MALE; MISSENSE MUTATION; MUSCLE; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCOLIOSIS;

ADOLESCENT; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION, MISSENSE; PEDIGREE;

EID: 84871327279     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23500     Document Type: Article

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