Key result
A novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in two infant half-siblings with severe neonatal X-linked myotubular myopathy.
Why the study?
X-linked myotubular myopathy is a severe congenital skeletal muscle disorder with phenotypic variability and a poor prognosis, where management requires shared decision-making regarding disease severity, quality of life, and caregiver demands.
Case Report (n=2)
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This case report identifies a novel MTM1 gene variant in two siblings with XLMTM and proposes a management algorithm for the disease.
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy. Management of patients with XLMTM should therefore be guided by shared decision-making with parents, considering the severity and progression of the disease, quality of life, and demands on caregivers. We describe a family unit of two half-siblings presenting with the severe neonatal form of XLMTM, with varying prognosis and outcomes. Furthermore, a novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in this family. Hereby, we propose an algorithm for the management of XLMTM, outlining important considerations during the antenatal and postnatal follow-up period.
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Koe et al. (2024) conducted a case report in X-linked myotubular myopathy (XLMTM) (n=2). A novel maternally-derived c.343-1G > A variant in intron-5 of the MTM1 gene was identified in two infant half-siblings with severe neonatal X-linked myotubular myopathy.
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