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Sporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case
Neurology IndiaSporadic late-onset nemaline rod myopathy is a rare, acquired, sub-acute, adult-onset myopathy characterized by proximal muscle weakness and nemaline rods in the myofibers. In contrast to its congenital form, the prevalence in adult population is comparatively rare.
Anubhav, Narwal +3 more
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Clinical heterogeneity in Korean patients with nemaline myopathy [PDF]
, 2010 PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers.
선우일남 +5 more
core +1 more source
Nemaline myopathy: description of an adult onset case.
, 2002 Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle ...
Dotti M +5 more
core +1 more source
Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy [PDF]
, 2017 Nemaline myopathy is a subtype of congenital myopathy that is clinically characterized by muscle weakness and early hypotonia of variable severity. Pathologically, nemaline myopathy is characterized by the presence of nemaline rods that stain purple in ...
Wang, Jeffrey C.
core +1 more source
, 2004 Nemaline myopathy has been associated with mutations in five different genes, which all encode protein components of the sarcomeric thin filaments. We report follow-up studies in two children with mutations not previously described in skeletal muscle ...
Oldfors, Anders, +4 more
core +1 more source
Sudden cardiac arrest in a child with nemaline myopathy Critical Care
, 2015 Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers.
Manti S. +6 more
core +1 more source
On the perfect hexagonal packing of rods [PDF]
, 2006 In most cases the hexagonal packing of fibrous structures or rods extremizes the energy of interaction between strands. If the strands are not straight, then it is still possible to form a perfect hexatic bundle.
Starostin, EL
core
, 2015 Mutations in ACTA1 encoding for α-actin cause a clinical and histopathologically heterogeneous group of myopathies with variable degree of muscle weakness and a spectrum of muscle pathology, including nemaline rods, cores, cap-like structures, fiber type
Donkervoort, S +11 more
core +1 more source
[Congenital myopathy with cores and nemaline rods in one family].
Neurologia (Barcelona, Spain), 1995 We present a mother and 2 children with congenital myopathy whose clinical signs were facial paresis in all three, and mild involvement of the lower extremities in the mother and one son. All three presented skeletal abnormalities, hypertelorism, arched palate, retraction of the Achilles tendon or short neck.
J L, Casado +5 more
openaire +1 more source