Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

Journal of Neuropathology and Experimental Neurology

Volumn 72, Issue 9, 2013, Pages 833-845

  Malfatti, Edoardo ^a,b,c,d,e   Olivé, Montse ^a,f   Taratuto, Ana Lía ^g   Richard, Pascale ^h   Brochier, Guy ^a   Bitoun, Marc ^c,d   Gueneau, Lucie ^c,d   Laforêt, Pascal ^e   Stojkovic, Tanya ^e   Maisonobe, Thierry ^h   Monges, Soledad ^g   Lubieniecki, Fabiana ^g   Vasquez, Gabriel ^g   Streichenberger, Nathalie ⁱ   Lacène, Emmanuelle ^a   Saccoliti, Maria ^g   Prudhon, Bernard ^c,d   Alexianu, Marilena ^j   Figarella Branger, Dominique ^k   Schessl, Joachim ^l   Bonnemann, Carsten ^m   Eymard, Bruno ^e   Fardeau, Michel ^a   Bonne, Gisèle ^c,d,h   Romero, Norma Beatriz ^a,c,d,e   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF SIENA   (Italy)

^c INSERM   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e Institut de Myologie   (France)

^f HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^g HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ UNIVERSITÉ LYON 1   (France)

^j Aix Marseille University ^*

^k AIX MARSEILLE UNIVERSITY   (France)

^l LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^m NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

more..

Author keywords

Congenital myopathies with protein aggregates; FHL1; FHL1 related myopathies; Protein surplus myopathies; Reducing bodies

Indexed keywords

ALPHA CRYSTALLIN; CYSTEINE; DESMIN; GENOMIC DNA; GLYCEROPHOSPHATE; HISTIDINE; PROTEIN; PROTEIN FHL 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRON MICROSCOPY; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOELECTRON MICROSCOPY; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE FIBRIL; MUSCLE HYPERTROPHY; MYOPATHY; PHAGOCYTOSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; ALPHA-CRYSTALLIN B CHAIN; BIOPSY; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CYTOSKELETAL PROTEINS; DESMIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; YOUNG ADULT;

EID: 84883597381     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/NEN.0b013e3182a23506     Document Type: Article

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