Results 121 to 130 of about 28,319 (230)

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

PLoS ONE, 2017
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation
Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino   +19 more
doaj   +1 more source

A rare case of distal myopathy

Indian Journal of Pathology and Microbiology, 2022
Rahul Jain, Kuljeet Singh Anand, Abhishek Juneja   +2 more
doaj   +1 more source

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. [PDF]

Neurol Genet, 2021
Hackman P, Rusanen SM, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B.   +15 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation. [PDF]

Neurol Genet, 2022
Manini A, Velardo D, Ciscato P, Cinnante C, Moggio M, Comi G, Corti S, Ronchi D.   +7 more
europepmc   +1 more source

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

Stem Cell Research
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs.
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +10 more
doaj   +1 more source

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient. [PDF]

Front Genet, 2022
Ji G, Wang N, Han X, Wang Y, Zhang J, Wu Y, Wu H, Ma S, Song X.   +8 more
europepmc   +1 more source

Long-term neuromuscular sequelae of critical illness [PDF]

, 2018
In this observational study, we analyzed the long-term neuromuscular deficits of survivors of critical illness. Intensive care unit-acquired muscular weakness (ICU-AW) is a very common complication of critical illness.
Heneka, Michael, Kaiser, Markus, Okulla, Torsten, Seifert, Burkhardt, Semmler, Alexander   +4 more
core  

A case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy. [PDF]

Eur Heart J Case Rep, 2021
Alvarez CK, Swales H, Kluger J.
europepmc   +1 more source

A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores. [PDF]

CNS Neurosci Ther, 2021
Chen L, Chen DF, Dong HL, Liu GL, Wu ZY.
europepmc   +1 more source

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone [PDF]

, 2017
Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene.
Custer, Sara K., Lu, Hongbo, Neumann, Manuela, Taylor, J. Paul, Wright, Alexander C.   +4 more
core