Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Danhaive, Olivier; Lozzi, Simona; D’Amico, Adele; Vito, Rita De; Boldrini, Renata; Corchia, Carlo; Bagolan, Pietro; Bertini, Enrico

doi:10.1016/j.jpedsurg.2007.04.030

Cited by 7 publications

(3 citation statements)

References 15 publications

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“…1,11,[57][58][59][60] Muscle weakness may affect respiratory health both at birth and throughout life, and respiratory complications may present in either the acute or the chronic setting. 1,11,24,38,[60][61][62][63][64][65][66][67] Respiratory complications are varied, however, and do not necessarily correlate with skeletal muscle function. 1,11,[57][58][59][60] The factors influencing respiratory impairment include respiratory muscle weakness (especially diaphragm weakness), abnormal respiratory control of breathing, swallow and bulbar dysfunction, and failure to thrive resulting in restrictive lung disease, difficulty managing oral and respiratory secretions, and sleep disordered breathing.…”

Section: Specific Recommendations For Individual Congenital Myopathiesmentioning

confidence: 99%

“…1,11,[57][58][59][60] The factors influencing respiratory impairment include respiratory muscle weakness (especially diaphragm weakness), abnormal respiratory control of breathing, swallow and bulbar dysfunction, and failure to thrive resulting in restrictive lung disease, difficulty managing oral and respiratory secretions, and sleep disordered breathing. 1,11,24,38,[60][61][62][63][64][65][66][67] Respiratory function can also be significantly compromised by factors such as intercurrent illness and progressive scoliosis. It is essential for medical care providers to be aware of possible respiratory involvement in patients with congenital myopathies of all ages and at all stages of disease.…”

Section: Specific Recommendations For Individual Congenital Myopathiesmentioning

confidence: 99%

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Consensus Statement on Standard of Care for Congenital Myopathies

et al. 2012

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Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences,

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Section: Specific Recommendations For Individual Congenital Myopathiesmentioning

confidence: 99%

Section: Specific Recommendations For Individual Congenital Myopathiesmentioning

confidence: 99%

Consensus Statement on Standard of Care for Congenital Myopathies

et al. 2012

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“…This gene encodes a component of the thin filaments of the sarcomere, and loss of function mutations in TPM3 have been reported in patients with nemaline myopathy and congenital fiber type disproportion (Laing et al 1995; Clarke et al 2008; Lehtokari et al 2008). Interestingly, diaphragm hypoplasia is a recognized complication of severe nemaline myopathy (Wada et al 1996; Danhaive et al 2007). However, in patients with TPM3 loss of function mutations, the diameter of the type I slow fibers is reduced, as TPM3 encodes the slow isoform of skeletal muscle α-tropomyosin (Lehtokari et al 2008).…”

Section: Discussionmentioning

confidence: 99%

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm

et al. 2009

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New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

et al. 2016

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Nemaline myopathy represents a group of clinically and genetically heterogeneous neuromuscular disorders. Different clinical-genetic entities have been characterized in the last few years, with implications for diagnostics and genetic counseling. Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and expensive. We selected 10 Italian patients with clinical and biopsy features suggestive for nemaline myopathy and negative for ACTA1, TPM2 and TPM3 mutations. We applied a targeted next-generation sequencing strategy designed to analyse NEB coding regions, the relative full introns and the promoter. We also evaluated copy number variations (by CGH array) and transcriptional changes by RNA Sanger sequencing, whenever possible. This combined strategy revealed 11 likely pathogenic variants in 8 of 10 patients. The molecular diagnosis was fully achieved in 3 of 8 patients, while only one heterozygous mutation was observed in 5 subjects. This approach revealed to be a fast and cost-effective way to analyse the large NEB gene in a small group of patients and might be promising for the detection of pathological variants of other genes featuring large coding regions and lacking mutational hotspots.

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Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Cited by 7 publications

References 15 publications

Consensus Statement on Standard of Care for Congenital Myopathies

Consensus Statement on Standard of Care for Congenital Myopathies

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients

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