Results 111 to 120 of about 17,793 (220)

DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy. [PDF]

Cureus, 2023
Dias R, Aguiar TC.
europepmc   +1 more source

TAK1 Regulates Skeletal Muscle Mass, Hypertrophic Signaling, and Metabolic Homeostasis in Male and Female Mice

The FASEB Journal, Volume 40, Issue 10, 31 May 2026.
Targeted inactivation of TAK1 induces more rapid muscle atrophy in male mice compared to female mice. In addition, loss of TAK1 impairs mechanical overload–induced phosphorylation of p70S6K and rpS6, leading to blunted muscle hypertrophic growth. TAK1 inactivation also promotes lipid accumulation while reducing fatty acid metabolism in skeletal muscle ...
Meiricris Tomaz da Silva, Aniket S. Joshi, Anirban Roy, Troy A. Hornberger, Ashok Kumar   +4 more
wiley   +1 more source

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

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

Autosomal dominant distal myopathy: Linkage to chromosome 14

, 1995
We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902.
Laing, N.G., Kozman, H., Mastaglia, F.L., Meredith, C., Kakulas, B.A., Robbins, P., Honeyman, K., Wilton, S.D., Laing, B.A., Dorosz, S.   +9 more
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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

Welander distal myopathy : clinical and genetic studies

, 1998
Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal ...
Gabrielle Åhlberg (19493839)
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