Molecular pathomechanism of distal myopathy with rimmed vacuoles

Clinical Neurology

Volumn 45, Issue 11, 2005, Pages 943-945

  Nishino, Ichizo ^a   Noguchi, Satoru ^a   Murayama, Kumiko ^a   Ohkuma, Aya ^a   Kasahata, Naoki ^a   Malicdan, May Christine V ^a   Hayashi, Yukiko K ^a   Nonaka, Ikuya ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

GNE; Hyposialylation; Inclusion body; Myopathy; Rimmed vacuoles

Indexed keywords

EPIMERASE; N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; SIALIC ACID; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE 2 EPIMERASE;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; DISEASE SEVERITY; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLES; ENZYME ACTIVITY; ENZYME MECHANISM; GENE; GENE MUTATION; GNE GENE; HEREDITARY INCLUSION BODY MYOPATHY; HOMOZYGOTE; HUMAN; METABOLITE; MISSENSE MUTATION; MUTANT; NONHUMAN; PREVALENCE; RECOMBINANT GENE; SIALYLATION; SKELETAL MUSCLE;

CARBOHYDRATE EPIMERASES; DISTAL MYOPATHIES; HUMANS; INCLUSION BODIES; MUSCLES; MUTATION; VACUOLES;

EID: 31544451269     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (11)

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