Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: Recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

Clinical Genetics

Volumn 74, Issue 1, 2008, Pages 54-60

  Viassolo, V ^a,b   Previtali, S C ^c   Schiatti, G ^c   Magnani, G ^a,d   Minetti, C ^a,d   Zara, F ^a,d   Grasso, M ^b   Dagna Bricarelli, F ^b   Di Maria, Emilio ^a,b  

^a UNIVERSITY OF GENOA   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d G GASLINI INSTITUTE   (Italy)

Author keywords

Frontotemporal dementia; Genetic counselling; IBM; IBMPFD; VCP

Indexed keywords

VALOSIN CONTAINING PROTEIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; ELECTRON MICROSCOPY; FAMILY STUDY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC COUNSELING; HETEROZYGOSITY; HIGH RISK PATIENT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INCLUSION BODY MYOPATHY; ITALY; MALE; MICROSCOPY; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; PAGET BONE DISEASE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATASES; ADULT; CELL CYCLE PROTEINS; DEMENTIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; OSTEITIS DEFORMANS; PEDIGREE; SYNDROME;

EID: 45149119899     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00984.x     Document Type: Article

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