Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings

Neuromuscular Disorders

Volumn 20, Issue 5, 2010, Pages 330-334

  Kumar, Kishore R ^a   Needham, Merrilee ^a   Mina, Kym ^b   Davis, Mark ^b   Brewer, Janice ^a   Staples, Christopher ^c   Ng, Karl ^a   Sue, Carolyn M ^a,d   Mastaglia, Frank L ^e  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b ROYAL PERTH HOSPITAL   (Australia)

^c MATER HOSPITAL   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

IBMPFD; Inclusion body myopathy; Mutation; Novel; Pyramidal; VCP

Indexed keywords

ALKALINE PHOSPHATASE; CREATINE KINASE; NEUROLEPTIC AGENT; TAR DNA BINDING PROTEIN; VALOSIN CONTAINING PROTEIN;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUSTRALIA; CLINICAL ARTICLE; COMORBIDITY; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; FASCICULATION; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PAGET BONE DISEASE; PARANOIA; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHIZOPHRENIA;

ADENOSINE TRIPHOSPHATASES; ADULT; ALKALINE PHOSPHATASE; ARGININE; AUSTRALIA; CELL CYCLE PROTEINS; CREATINE KINASE; ELECTRODIAGNOSIS; FAMILY HEALTH; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; INCLUSION BODIES; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; OSTEITIS DEFORMANS; TRYPTOPHAN;

EID: 77952009753     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.03.002     Document Type: Article

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