WordNet

(of muscular tissue) the state of being hypotonic (同)hypotonus, hypotonicity
of or relating to or consisting of muscle; "muscular contraction"
having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"

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Yin X, Pu CQ, Wang Q, Liu JX, Mao YL.
Molecular medicine reports.Mol Med Rep.2014 Jul;10(1):175-82. doi: 10.3892/mmr.2014.2184. Epub 2014 Apr 24.
Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to summarize and analyze retrospectively the clinicopathological features of 28 patients with NM. Among the 28 patients, 15 were cl
PMID 24788569

Duplication in the Microtubule-Actin Cross-linking Factor 1 gene causes a novel neuromuscular condition.

Jørgensen LH1, Mosbech MB2, Færgeman NJ2, Graakjaer J3, Jacobsen SV4, Schrøder HD1.
Scientific reports.Sci Rep.2014 Jun 5;4:5180. doi: 10.1038/srep05180.
Spectrins and plakins are important communicators linking cytoskeletal components to each other and to cellular junctions. Microtubule-actin cross-linking factor 1 (MACF1) belongs to the spectraplakin family and is involved in control of microtubule dynamics. Complete knock out of MACF1 in mice is a
PMID 24899269

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

Piekutowska-Abramczuk D1, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E.
Clinical genetics.Clin Genet.2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28.
This study reports clinical, biochemical and histopathological findings associated with a novel homozygous MPV17 mutation in four patients with mitochondrial depletion syndrome. The severe course of the disease, which started in the first weeks of life, was dominated by a failure to thrive, hypotoni
PMID 23829229