Results 121 to 130 of about 333,621 (210)

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions

The Journal of Clinical Investigation
The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility.
Julius Bogomolovas, Ju Chen
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

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 ...
Laforet, P., Eymard, B., Leroy, J. P., Tome, F. M., Beckmann, J., Richard, I., Fardeau, M., Collin, H., Hauw, J. J.   +8 more
core   +1 more source

Early onset chromosome 14-linked distal myopathy (Laing)

, 2002
A dominantly inherited form of distal myopathy with onset in early childhood was first reported in a 4-generation Australian family in 1995. In the present report we provide further information on the clinical phenotype and natural history of this ...
Mastaglia, F.L., Laing, N.G., Meredith, C., Egli, S., Akkari, P.A., Cala, L.A., Phillips, B.A.   +6 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   +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  

Case of ? Distal Myopathy [PDF]

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

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

Expansion of the Clinical and Genetic Spectra of hnRNPA1-Associated Distal Myopathy in Two Korean Families. [PDF]

J Clin Neurol
Lee K, Choi YJ, Choi YC, Park HJ.
europepmc   +1 more source