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Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

• Authors : Gurgel-Giannetti, Juliana¹ (AUTHOR); Souza, Lucas Santos² (AUTHOR); Yamamoto, Guilherme L.² (AUTHOR)

Subjects: *NEMALINE myopathy; *PATIENTS' families; *NUCLEOTIDE sequencing

• Source: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11995. 20p.

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Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families.

• Authors : Etarhuni, Samira¹ (AUTHOR) ; Kara, Majdi² (AUTHOR); Alghazir, Nadia³ (AUTHOR)

• Source: Ibnosina Journal of Medicine & Biomedical Sciences. Jun2024, Vol. 16 Issue 2, p77-84. 8p.

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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

• Authors : Moreau-Le Lan, Sarah¹; Aller, Elena^2,3,4; Calabria, Ines¹

Subjects: *GENETIC mutation; *NEMALINE myopathy; *COMPUTATIONAL biology

• Source: PLoS ONE. 12/5/2018, Vol. 13 Issue 12, p1-12. 12p.

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Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.

• Authors : Du, Hongjia^1,2 (AUTHOR); Chen, Yan^1,3 (AUTHOR); Zeng, Li⁴ (AUTHOR)

• Source: International Journal of Rheumatic Diseases. Feb2024, Vol. 27 Issue 2, p1-5. 5p.

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Alterations at the Cross-Bridge Level Are Associated with a Paradoxical Gain of Muscle Function In Vivo in a Mouse Model of Nemaline Myopathy.

• Authors : Gineste, Charlotte¹; Ottenheijm, Coen²; Le Fur, Yann¹

Subjects: *LABORATORY mice; *NEMALINE myopathy; *SKELETAL muscle

• Source: PLoS ONE. Sep2014, Vol. 9 Issue 9, p1-11. 11p.

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A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis, metabolic encephalopathy and cardiac arrhythmia: a case report.

• Authors : Alkhawaja, Zahra¹; Alkhalifi, Salwa M.² ; Tulbah, Sahar³

Subjects: *ARRHYTHMIA; *MUSCLE weakness; *RHABDOMYOLYSIS

• Source: Journal of Biochemical & Clinical Genetics. 2023, Vol. 6 Issue 2, p138-143. 6p.

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A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.

• Authors : Matsumoto, Ayumi^1,2 (AUTHOR); Tsuda, Hidetoshi² (AUTHOR); Furui, Sadahiro¹ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Sep2022, Vol. 10 Issue 9, p1-6. 6p.

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A rare structural myopathy: Nemaline myopathy.

• Authors : Yeşilbaş, Osman¹ ; Şevketoğlu, Esra¹; Kıhtır, Hasan Serdar¹

• Source: Türk Pediatri Arşivi. 2019, Vol. 54 Issue 1, p49-52. 4p.

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Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy.

• Authors : Oatmen, K.¹ (AUTHOR); Camelo-Piragua, S.² (AUTHOR); Zaghloul, N.³ (AUTHOR)

• Source: Journal of Neonatal - Perinatal Medicine. 2022, Vol. 15 Issue 1, p63-68. 6p.

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p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.

• Authors : Rigamonti, Andrea¹ (AUTHOR) ; Mantero, Vittorio¹ (AUTHOR); Peverelli, Lorenzo² (AUTHOR)

• Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5359-5363. 5p. 2 Color Photographs, 1 Diagram.

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