WordNet

of or relating to any disease of the muscles that is not caused by nerve dysfunction

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Wilson BT1,2, Omer M3, Hellens SW2, Zwolinski SA2, Yates LM1,2, Lynch SA3.
American journal of medical genetics. Part A.Am J Med Genet A.2015 Aug;167(8):1916-20. doi: 10.1002/ajmg.a.37114. Epub 2015 Apr 21.
We describe two patients with microdeletion 1p35.2, intrauterine growth retardation, small stature, hypermetropia, hearing impairment and developmental delay. Both patients have long, myopathic facies, with fine eyebrows, small mouths and micrognathia. We postulate a role for the histone deacetylase
PMID 25900906

Depreux FF1, Puckelwartz MJ2, Augustynowicz A1, Wolfgeher D3, Labno CM4, Pierre-Louis D1, Cicka D1, Kron SJ5, Holaska J1, McNally EM6.
Human molecular genetics.Hum Mol Genet.2015 Aug 1;24(15):4284-95. doi: 10.1093/hmg/ddv160. Epub 2015 May 6.
The nuclear face of the nuclear membrane is enriched with the intermediate filament protein lamin A. Mutations in LMNA, the gene encoding lamin A, lead to a diverse set of inherited conditions including myopathies that affect both the heart and skeletal muscle. To gain insight about lamin A protein
PMID 25948554

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene.

Jędrzejowska M1, Jakubowska-Pietkiewicz E2, Kostera-Pruszczyk A3.
Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Aug;25(8):661-6. doi: 10.1016/j.nmd.2015.05.001. Epub 2015 May 8.
Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical s
PMID 26028276