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The unfolding spectrum of inherited distal myopathies.

• Authors : Milone, Margherita; Liewluck, Teerin

Subjects: ELECTROMYOGRAPHY; MOTOR neuron diseases; MUSCULAR dystrophy

• Source: Muscle & Nerve; Mar2019, Vol. 59 Issue 3, p283-294, 12p

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Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.

• Authors : Wang, Hui; Zhang, Ting; Xu, Yanming

Subjects: GENETIC mutation; MUSCULAR atrophy; MISSENSE mutation

• Source: Molecular Genetics & Genomic Medicine; Nov2024, Vol. 12 Issue 11, p1-4, 4p

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Distal myopathies: from clinical classification to molecular understanding.

• Authors : Kraya, Torsten; Zierz, Stephan

Subjects: MUSCLE diseases; MUSCLE weakness; MOLECULAR genetics

• Source: Journal of Neural Transmission; Sep2013 Supplement, Vol. 120, p3-7, 5p

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Distal Myopathies.

• Authors : Udd, Bjarne

• Source: Current Neurology & Neuroscience Reports; Mar2014, Vol. 14 Issue 3, p1-9, 9p

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Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination.

• Authors : Mensch, Alexander; Kraya, Torsten; Koester, Felicitas

Subjects: BICEPS femoris; MUSCLE diseases; GLUTEAL muscles

• Source: Journal of Neurology; Aug2020, Vol. 267 Issue 8, p2408-2420, 13p, 3 Diagrams, 3 Charts, 1 Graph

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Sarcoplasmic body myopathy – a rare hereditary myopathy with characteristic inclusions.

• Authors : Engvall, M.; Åhlberg, G.; Hedberg, B.

Subjects: NEUROMUSCULAR diseases; MUSCULAR atrophy; MUSCLE diseases

• Source: Acta Neurologica Scandinavica. Oct2005, Vol. 112 Issue 4, p223-227. 5p.

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A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores.

• Authors : Chen, Lei; Chen, Dian‐Fu; Dong, Hai‐Lin

Subjects: MUSCLE diseases; MUSCULAR dystrophy; FACIOSCAPULOHUMERAL muscular dystrophy

• Source: CNS Neuroscience & Therapeutics; Oct2021, Vol. 27 Issue 10, p1198-1205, 8p

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Distal myopathies – New genetic entities expand diagnostic challenge

• Authors : Udd, Bjarne^1,2,3

Subjects: *DIAGNOSIS of muscle diseases; *ASTHENIA; *MEDICAL care

• Source: Neuromuscular Disorders. Jan2012, Vol. 22 Issue 1, p5-12. 8p.

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A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.

• Authors : Li, Yufei¹ (AUTHOR); Li, Wenwu^1,2 (AUTHOR); Fan, Baitong¹ (AUTHOR)

Subjects: *GENETIC disorders; *LYMPHOBLASTOID cell lines; *MEDICAL genetics

• Source: Gene. Nov2024, Vol. 927, pN.PAG-N.PAG. 1p.

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Distal myopathy due to TCAP variants in four unrelated Chinese patients.

• Authors : Lv, Xiaoqing; Gao, Fei; Dai, Tingjun

Subjects: FAMILIAL spastic paraplegia; CHINESE people; LIMB-girdle muscular dystrophyCHINA

• Source: Neurogenetics; Mar2021, Vol. 22 Issue 1, p1-10, 10p

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