Associated Papers
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
36314217 (PubMed )
Supplement: jnd-10-jnd221543-s003.docx
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
Waisayarat J et al.
Diagnostic Pathology, 2015
Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)].
Joly P et al.
Hemoglobin, 2013
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.
Garcia-Angarita N et al.
Neuromuscular Disorders : Nmd, 2009
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