Consequences of mutations within the C terminus of the FHL1 gene

Neurology

Volumn 73, Issue 7, 2009, Pages 543-551

  Schoser, B ^a   Goebel, H H ^b   Janisch, I ^c   Quasthoff, S ^c   Rother, J ^d   Bergmann, M ^e   Muller Felber W ^a   Windpassinger, C ^c  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

^d KLINIKUM MINDEN   (Germany)

^e KLINIKUM BREMEN MITTE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN FHL1A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELISM; AORTA SINUS ANEURYSM; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; FEMALE; FHL1 GENE; GENE; GENE MUTATION; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MORPHOLOGY; MORPHOTYPE; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOATHLETICISM; REDUCING BODY MYOPATHY; RIGID SPINE SYNDROME; SCAPULOPERONEAL MYOPATHY; SCHOOL CHILD; WESTERN BLOTTING; X LINKED LATE ONSET SCAPULOAXIOPERONEAL MYOPATHY; X LINKED MYOPATHY CHARACTERIZED BY POSTURAL MUSCLE ATROPHY;

EID: 69449087584     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b2a4b3     Document Type: Article

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