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Your search keyword '"Core-rod myopathy"' showing total 3 results
Start Over Descriptor "Core-rod myopathy" Topic congenital myopathies
3 results on '"Core-rod myopathy"'

1. Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Author

Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, and Giovanni Antonini

Subjects
Congenital myopathies, KBTBD13, Core-rod myopathy, Nemaline myopathy, Central core myopathy, LGMD, Neurology. Diseases of the nervous system, RC346-429
Published
2018
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3. Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Author

Guy Brochier, Enrico Bertini, Giovanni Antonini, Margherita Verardo, Carmen Paradas, Marcello Pinti, Norma B. Romero, Salvatore Raffa, Emilia Servián-Morilla, Giulia Di Rocco, Matteo Garibaldi, Lara Gibellini, Fabiana Fattori, Carlo Augusto Bortolotti, Clémence Labasse, and Elena Maria Pennisi

Subjects
Male, Models, Molecular, 0301 basic medicine, Central core myopathy, Congenital myopathies, Core-rod myopathy, KBTBD13, LGMD, Nemaline myopathy, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Green Fluorescent Proteins, Muscle Proteins, Late onset, Biology, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, Progressive proximal muscle weakness, Muscle, Skeletal, Myopathy, BTB/POZ domain, Letter to the Editor, Creatine Kinase, lcsh:Neurology. Diseases of the nervous system, Aged, RYR1, Muscle biopsy, medicine.diagnostic_test, NAD, medicine.disease, Magnetic Resonance Imaging, Microscopy, Electron, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, BTB-POZ Domain, Mutation, Neurology (clinical), medicine.symptom, Novel mutation, 030217 neurology & neurosurgery
Abstract

Few genes (RYR1, NEB, ACTA1, CFL2, KBTBD13) have been associated with core-rod congenital myopathies [7]. KBTBD13 belongs to the Kelch-repeat super-family of proteins and is implicated in the ubiquitination pathway. Dominant mutations in KBTBD13 have been associated with a peculiar form of core-rod myopathy (NEM6) so far [10]. Childhood onset, slowly progressive proximal muscle weakness with characteristic slowness of movements and combination of nemaline rods, irregular shaped cores and unusual type2 fibres hypotrophy at muscle biopsy, were the main characteristics shared in all the affected members of the four KBTBD13 families reported in the literature [12]. We report on a 65 years old patient, of Sardinian origin, with atypical clinical and morphological presentation of NEM6 due to a novel mutation in KBTBD13 gene.

Published
2018
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