Results 71 to 80 of about 15,356 (198)
Shoulder Rotation Test: A New Test for Discriminating Between Functional and Structural Weakness
Brain and Behavior, Volume 16, Issue 4, April 2026.We introduce the shoulder rotation test, a simple bedside test combining the MRC scoring of shoulder internal rotation (IR) and external rotation (ER), for discriminating between functional weakness (FW) and structural weakness (SW) of the upper limbs.
Takamichi Kanbayashi, Masahiro Sonoo
wiley +1 more source
Neurobiology of Disease, 2004 Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou +7 more
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Orphanet Journal of Rare Diseases, 2023 Background Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders.
Vilma-Lotta Lehtokari +5 more
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Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo +7 more
wiley +1 more source
Flexible intramedullary nailing for distal femoral fractures in patients with myopathies
Journal of Children's Orthopaedics, 2012 Purpose Distal femoral fractures are quite common in nonambulating patients with myopathies, as they present marked osteoporosis. The deterioration of preexisting knee flexion contracture is a known problem, as these fractures are usually angulated ...
Hanspeter Huber +5 more
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Archives of pathology & laboratory medicine, 1978 Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
openaire +3 more sources
Spinal Deformity in Congenital Myopathies
Indian Spine JournalCongenital myopathy (CM) is a group of rare genetic disorders characterized by hypotonia, hyporeflexia, and weakness present at birth. The condition is estimated to affect between 0.7 and 4.4 per 100,000 children.
Thomas Coleman, Patrick J. Cahill
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Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support
Clinical Case Reports, Volume 14, Issue 3, March 2026.Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho +4 more
wiley +1 more source
Congenital myopathies: not only a paediatric topic [PDF]
, 2016 Contains fulltext : 167683.pdf (Publisher’s version ) (Open Access)PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and ...
Jungbluth, Heinz; id_orcid +5 more
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Congenital myopathies: A clinicopathological study of 25 cases
Indian Journal of Pathology and Microbiology, 2008 Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali +6 more
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