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Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

• Authors : Janßen, Sören¹ (AUTHOR) ; Erbe, Leoni S.² (AUTHOR) ; Kneifel, Moritz³ (AUTHOR)

Subjects: *WHOLE genome sequencing; *GENETIC variation; *RYANODINE receptors

• Source: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10867. 15p.

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Congenital myopathy‐related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding.

• Authors : Moraczewska, Joanna¹ (AUTHOR) ; Robaszkiewicz, Katarzyna¹ (AUTHOR); Śliwinska, Małgorzata¹ (AUTHOR)

Subjects: *TROPOMYOSINS; *MOLECULAR dynamics; *MYOSIN

• Source: FEBS Journal. May2019, Vol. 286 Issue 10, p1877-1893. 17p.

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Aerobic Training in Patients with Congenital Myopathy.

• Authors : Hedermann, Gitte¹ ; Vissing, Christoffer Rasmus¹; Heje, Karen¹

Subjects: *MUSCLE diseases; *HUMAN abnormalities; *CONTRACTILE proteins

• Source: PLoS ONE. 1/11/2016, Vol. 11 Issue 1, p1-9. 9p.

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Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin.

• Authors : Karpicheva, Olga E.¹ (AUTHOR) ; Simonyan, Armen O.^1,2 (AUTHOR) ; Rysev, Nikita A.¹ (AUTHOR)

Subjects: *TROPOMYOSINS; *MICROFILAMENT proteins; *MUSCLE diseases

• Source: International Journal of Molecular Sciences. Oct2020, Vol. 21 Issue 20, p7590-7590. 1p.

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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.

• Authors : Chausova, Polina¹ (AUTHOR) ; Murtazina, Aysylu¹ (AUTHOR); Stepanova, Anna¹ (AUTHOR)

Subjects: *MUSCLE diseases; *GENETIC variation; *WOMEN patients

• Source: International Journal of Molecular Sciences. May2023, Vol. 24 Issue 9, p8409. 10p.

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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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Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.

• Authors : Karpicheva, Olga E.¹ (AUTHOR); Avrova, Stanislava V.¹ (AUTHOR); Bogdanov, Andrey L.¹ (AUTHOR)

Subjects: *MYOSIN; *NEMALINE myopathy; *MUSCLE weakness

• Source: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5829. 24p.

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Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

• Authors : Perrin, Aurélien^1,2 (AUTHOR) ; Garcia-Uzquiano, Rocio³ (AUTHOR) ; Stojkovic, Tanya⁴ (AUTHOR)

• Source: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12994. 15p.

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Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.

• Authors : Kuruba, Balaganesh¹ (AUTHOR) ; Kaczmarek, Marta² (AUTHOR) ; Kęsik-Brodacka, Małgorzata³ (AUTHOR)

Subjects: *TROPOMYOSINS; *MICROFILAMENT proteins; *MOLECULAR dynamics

• Source: Molecules. Nov2021, Vol. 26 Issue 22, p6980-6980. 1p.

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Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.

• Authors : van de Locht, Martijn¹ (AUTHOR) ; Borsboom, Tamara C.¹ (AUTHOR); Winter, Josine M.¹ (AUTHOR)

Subjects: *TROPONIN; *SKELETAL muscle; *NEMALINE myopathy

• Source: International Journal of Molecular Sciences. Sep2021, Vol. 22 Issue 17, p9187. 1p.

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