Results 41 to 50 of about 16,852 (152)

Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia   +8 more
doaj  

Follow-up of a pregnant patient with restrictive cardiomyopathy and neuromuscular disease – mission is possible – case report [PDF]

Българска кардиология
The follow-up of pregnant patients with cardiomyopathies is a challenge that every cardiologist will be facing sooner or later. We present the first case of a patient with restrictive cardiomyopathy and Alpha-B-crystallinopathy (distal myopathy type ...
Z. Shomanova, H. Welp, R. Schmitz, J.R. Sindermann   +3 more
doaj   +3 more sources

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

Frontiers in Neurology, 2020
Background: Myofibrillar myopathy is a group of hereditary neuromuscular disorders characterized by dissolution of myofibrils and abnormal intracellular accumulation of Z disc-related proteins.
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang   +6 more
doaj   +1 more source

Myopathy of distal lower limbs: the clinical variant of Miyoshi

Arquivos de Neuro-Psiquiatria, 2003
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N., Freitas Marcos R.G. de, Nascimento Osvaldo J.M., Silva Lenilda Ferreira da, Freitas Andréa R. de, Werneck Lineu C.   +5 more
doaj  

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +1 more source

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy

Annals of Indian Academy of Neurology
Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles.
Esen Kiyan, Aylin Pihtili, Hacer Durmus, Yesim Parman   +3 more
doaj   +1 more source

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

Case Reports in Gastroenterology, 2016
A 73-year-old male presented with jaundice and severe muscle weakness. He was diagnosed with distal cholangiocarcinoma and paraneoplastic necrotizing autoimmune myopathy (NAM).
Stefan van Dijk, Anneke J. van der Kooi, Eleonora Aronica, Thomas M. van Gulik, Olivier R. Busch, Marc G. Besselink   +5 more
doaj   +1 more source

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy. [PDF]

Genes (Basel), 2023
Blagova O, Lutokhina Y, Vukolova M, Pirozhkov S, Sarkisova N, Ainetdinova D, Das A, Krot M, Smolyannikova V, Litvitsky P, Zaklyazminskaya E, Kogan E.   +11 more
europepmc   +1 more source