Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

scientific article published in March 2002

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.10199
P698PubMed publication ID11891683

P2093author name stringVirginia E Kimonis
Brook Waggoner
Dan Cai
David Gelber
Marc Winkelman
Margaret J Kovach
Romesh Khardori
P2860cites workPaget disease of bone: mapping of two loci at 5q35-qter and 5q31.Q24535825
Genetic linkage of Paget disease of the bone to chromosome 18qQ24677166
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysisQ28141482
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementiaQ28212105
Making sense of the limb-girdle muscular dystrophiesQ33701932
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.Q34402957
Frequency and characteristics of familial aggregation of paget's disease of boneQ45168880
Paget's disease and muscular dystrophy. Report of an unusual association in one familyQ72889614
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of boneQ73625727
Heterogeneity in Paget disease of the boneQ73911660
P433issue3
P304page(s)187-191
P577publication date2002-03-01
P1433published inAmerican Journal of Medical Genetics Part AQ15755121
P1476titleHeterogeneity in familial dominant Paget disease of bone and muscular dystrophy
P478volume108

Reverse relations

cites work (P2860)
Q41487960A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation
Q57165581A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene
Q44551626Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes
Q24611300Motor neuron involvement in multisystem proteinopathy: implications for ALS
Q34178673The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.
Q37452177Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

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