'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

Adele D'Amico; Fabiana Fattori; Chiara Fiorillo; Maria Giovanna Paglietti; Maria Beatrice Chiarini Testa; Margherita Verardo; Michela Catteruccia; Claudio Bruno; Enrico Bertini

doi:10.1016/j.nmd.2019.09.005

'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

Adele D'Amico, Fabiana Fattori, Chiara Fiorillo, Maria Giovanna Paglietti, Maria Beatrice Chiarini Testa, Margherita Verardo, Michela Catteruccia, Claudio Bruno, Enrico Bertini

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.

Original language	English
Pages (from-to)	766-770
Number of pages	5
Journal	Neuromuscular Disorders
Volume	29
Issue number	10
DOIs	https://doi.org/10.1016/j.nmd.2019.09.005
Publication status	Published - Oct 2019

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'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. / D'Amico, Adele; Fattori, Fabiana; Fiorillo, Chiara; Paglietti, Maria Giovanna; Testa, Maria Beatrice Chiarini; Verardo, Margherita; Catteruccia, Michela; Bruno, Claudio; Bertini, Enrico.

In: Neuromuscular Disorders, Vol. 29, No. 10, 10.2019, p. 766-770.

Research output: Contribution to journal › Article › peer-review

D'Amico, Adele ; Fattori, Fabiana ; Fiorillo, Chiara ; Paglietti, Maria Giovanna ; Testa, Maria Beatrice Chiarini ; Verardo, Margherita ; Catteruccia, Michela ; Bruno, Claudio ; Bertini, Enrico. / 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. In: Neuromuscular Disorders. 2019 ; Vol. 29, No. 10. pp. 766-770.

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abstract = "Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.",

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AU - Testa, Maria Beatrice Chiarini

AU - Verardo, Margherita

AU - Catteruccia, Michela

AU - Bruno, Claudio

AU - Bertini, Enrico

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AB - Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.

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