Nemaline myopathies: State of the art

Revue Neurologique

Volumn 172, Issue 10, 2016, Pages 614-619

  Malfatti, E ^a,b   Romero, N B ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Sorbonne Université   (France)

Author keywords

Congenital myopathy; Nemaline myopathy; Skeletal muscle pathology

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; KLHL41 GENE; LMOD3 GENE; MISSENSE MUTATION; MOTOR PERFORMANCE; MUSCLE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYO18B GENE; NEMALINE MYOPATHY; NEWBORN PERIOD; ONSET AGE; PATIENT CARE; REVIEW; SKELETAL MUSCLE; THIN FILAMENT; BIOPSY; GENETICS; MYOPATHIES, NEMALINE; PATHOLOGY;

BIOPSY; HUMANS; MYOPATHIES, NEMALINE;

EID: 84995629540     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2016.08.004     Document Type: Review

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