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Nemaline myopathies.
Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Wallgren-Pettersson C, et al. Semin Pediatr Neurol. 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004. Semin Pediatr Neurol. 2011. PMID: 22172418 Review.
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. ...The 2 most common causes of nemaline myopathy are recessive mutations in nebulin and de novo dominant mutations in …
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread …
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. ...We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histologica …
Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. ...We re …
Electromyography in congenital nemaline myopathy.
Wallgren-Pettersson C, Sainio K, Salmi T. Wallgren-Pettersson C, et al. Muscle Nerve. 1989 Jul;12(7):587-93. doi: 10.1002/mus.880120710. Muscle Nerve. 1989. PMID: 2674705 Review.
To clarify the discrepancies between earlier reports of electromyography (EMG) in congenital nemaline myopathy (CNM), conventional electromyography was done on 13 patients with CNM, and results were compared with those of 18 earlier EMG examinations of the same pati …
To clarify the discrepancies between earlier reports of electromyography (EMG) in congenital nemaline myopathy (CNM), conventi …
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.
Sanoudou D, Beggs AH. Sanoudou D, et al. Trends Mol Med. 2001 Aug;7(8):362-8. doi: 10.1016/s1471-4914(01)02089-5. Trends Mol Med. 2001. PMID: 11516997 Review.
The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characterized by the presence of nemaline rods in muscles of affected individuals. ...
The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characteriz …
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy.
Goebel HH, Warlo I. Goebel HH, et al. Neuromuscul Disord. 1997 Jan;7(1):13-9. doi: 10.1016/s0960-8966(96)00404-x. Neuromuscul Disord. 1997. PMID: 9132135 Review.
Among the different nosological forms of nemaline/rod myopathy, one morphological variant is marked by intranuclear rods in addition to sarcoplasmic rods. ...
Among the different nosological forms of nemaline/rod myopathy, one morphological variant is marked by intranuclear rods in ad …
[Nemaline congenital myopathy:clinical features and histopathological findings in nine patients].
Botelho CH, Carod-Artal FJ, Kalil RK. Botelho CH, et al. Rev Neurol. 2001 Feb 16-28;32(4):309-14. Rev Neurol. 2001. PMID: 11333383 Review. Spanish.
INTRODUCTION: Nemaline myopathy is a type of congenital myopathy which presents with hypotonia, muscle weakness which is predominantly proximal, lax ligaments, areflexia and skeletal deformities. ...PATIENTS AND METHODS: A retrospective study of the cases of …
INTRODUCTION: Nemaline myopathy is a type of congenital myopathy which presents with hypotonia, muscle weakness which i …
What's new in neuromuscular disorders? The congenital myopathies.
Jungbluth H, Sewry CA, Muntoni F. Jungbluth H, et al. Eur J Paediatr Neurol. 2003;7(1):23-30. doi: 10.1016/s1090-3798(02)00136-8. Eur J Paediatr Neurol. 2003. PMID: 12615171 Review.
The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular …
The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle bi …
Luminal loop of the ryanodine receptor: a pore-forming segment?
Balshaw D, Gao L, Meissner G. Balshaw D, et al. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3345-7. doi: 10.1073/pnas.96.7.3345. Proc Natl Acad Sci U S A. 1999. PMID: 10097041 Free PMC article. Review. No abstract available.
[Clinical and pathological studies on two patients with adult-onset nemaline myopathy].
Maruyama T, Hanyu N, Maruyama K, Takeda S, Yanagisawa N, Nonaka I. Maruyama T, et al. Rinsho Shinkeigaku. 1990 Jul;30(7):738-44. Rinsho Shinkeigaku. 1990. PMID: 2173650 Review. Japanese.
Clinical and pathological findings of two patients, a 44-year-old male and a 54-year-old female, with adult-onset nemaline myopathy were described. Both patients showed normal motor development through their childhood; Patient 1 ran fast and was involved in powerful …
Clinical and pathological findings of two patients, a 44-year-old male and a 54-year-old female, with adult-onset nemaline myopath …
[Muscular complications in HIV infection].
Authier FJ, Chariot P, Gherardi R. Authier FJ, et al. Arch Anat Cytol Pathol. 1997;45(2-3):174-8. Arch Anat Cytol Pathol. 1997. PMID: 9382610 Review. French.
We usually classify muscle involvement in HIV-infected patients in one of the following categories: HIV-associated myopathy, a myopathy that meets the criteria for polymyositis in a majority of patients, and those for acquired nemaline myopathy in some …
We usually classify muscle involvement in HIV-infected patients in one of the following categories: HIV-associated myopathy, a myo …
12 results