Results 131 to 140 of about 17,793 (220)

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Orphanet Journal of Rare Diseases
Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a
Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang   +9 more
doaj   +1 more source

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. [PDF]

Acta Neuropathol, 2021
Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B.   +25 more
europepmc   +1 more source

Welander distal myopathy : clinical and genetic studies [Elektronisk resurs]

, 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 ...
Åhlberg, G,
core  

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

, 2016
OBJECTIVE: To report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes.
Hackman, P., Clarke, N., Lindfors, M., Penttilä, S., Sue, C.M., Evilä, A., Ghaoui, R., Jonson, P-H, Yiannikas, C., Lek, M., Davis, R.L., Vihola, A., Needham, M., Kaur, S., MacArthur, D.G., Palmio, J., Huovinen, S., Waddell, L., Brewer, J., North, K., Udd, B.   +20 more
core  

Myopathie distale de type Miyoshi: semeiologie particuliere et frequence. [Miyoshi distal myopathy: specific signs and incidence]

, 2000
We report 21 French patients (12 males and 9 females), presenting a distal myopathy of Miyoshi type. The main clinical features of these patients were 1) onset in late adolescence or early adulthood (mean age: 20.3 years), 2) early and predominant ...
Leroy, J. P., Hauw, J. J., Beckmann, J., Eymard, B., Richard, I., Laforet, P., Tome, F. M., Collin, H., Fardeau, M.   +8 more
core  

Distal myopathy secondary to a mutation in myotilin

, 2008
Distal myopathies are inherited primary muscle and may be caused by defects in structural components of the sarcomere. We present a family with a distal myopathy secondary to a mutation in myotilin.
Dick, D.J., Hammans, S., Xuereb, J.H., Udd, B.   +3 more
core  

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos. [PDF]

Cureus, 2022
Quilacio JMS, Rosales RL, Ampil ER.
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy. [PDF]

J Neuromuscul Dis
Llansó L, Reyes-Leiva D, Segarra-Casas A, Xuclà-Ferrarons T, Gallardo E, Blanco R, Gallano P, Olivé M, González-Quereda L.   +8 more
europepmc   +1 more source

Case of ? Distal Myopathy [PDF]

Proceedings of the Royal Society of Medicine, 1926
openaire   +2 more sources