Molecular characterization of congenital myasthenic syndromes in Spain

Benito, D. Natera-de; Töpf, Ana; Domínguez‐Carral, Jana; Vílchez, Juan J.; Manera, Jorge; Ortez, C.; Oferil, J. Colomer; Lochmüller, Hanns; Nascimento, A.

doi:10.1016/j.ejpn.2017.04.1222

Cited by 10 publications

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“…The onset of LGMD was at 10 years of age, and he had no intellectual disability or eye disease. However, his serum CK level was elevated, which is consistent with previous studies [2,16]. The discrepancy in phenotypes might be attributed to the compound heterozygous mutations in our patient; however, further investigation is needed to examine this finding.…”

Section: Discussionsupporting

confidence: 91%

“…Our patient was found to have compound heterozygous GMPPB mutations. The homozygous missense mutation c.553C>T has been reported in two Mexican, one Egyptian [2], and three Spanish patients [16]. The mutation changes the highly conserved arginine to cysteine (p.R185C).…”

Section: Discussionmentioning

confidence: 99%

“…The 185 th amino acid, arginine, is conserved throughout several species, including humans, chimpanzees, mice, zebrafish, Drosophila, and Caenorhabditis elegans, indicating its functional importance [2]. Previous studies have shown that patients homozygous for the c.553C>T mutation present with phenotypes including CMD, LGMD/ CMS overlap syndromes, and LGMD (as young as 2.5 years old) [2], cataracts, mental retardation, epilepsy, and elevated serum CK levels [2,16].…”

Section: Discussionmentioning

confidence: 99%

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Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

Sun

Shen²,

Xiong³

et al. 2019

Bosn J of Basic Med Sci

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Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have two heterozygous GMPPB mutations. The patient had a progressive limb weakness for 19 years. His parents and elder brother were normal. On examination he had a waddling gait, and absent tendon reflexes in all four limbs. Electromyography showed myogenic damage. Muscle magnetic resonance imaging (MRI) showed fatty degeneration in the bilateral medial thigh muscles. High throughput gene panel sequencing revealed that the patient carried compound heterozygous mutations in the GMPPB gene, c.553C>T (p.R185C, maternal inheritance) and c.346C>T (p.P116S, paternal inheritance). This case provides additional information regarding the phenotypic spectrum of GMPPB mutations in the Chinese population.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

Sun

Shen²,

Xiong³

et al. 2019

Bosn J of Basic Med Sci

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“…In our experience, no response was observed with pyridostigmine but one of three patients referred a subjective beneficial effect with salbutamol. Both are commonly indicated in congenital myasthenic syndromes (Engel, ; McMacken, Abicht, Evangelista, Spendiff, & Lochmüller, ; Natera‐de Benito et al, ). In addition, an improvement with salbutamol has been recently reported in a patient with fetal acetylcholine inactivation syndrome (Allen et al, ).…”

Section: Discussionmentioning

confidence: 99%

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Carrera‐García

Benito

Dieterich³

et al. 2019

American J of Med Genetics Pt A

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Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS).Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years. Postnatal abnormalities at the neuromuscular junction were observed in the muscle biopsy of these patients.Laura Carrera-García and Daniel Natera-de Benito contributed equally to this study.

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“…The presynaptic genetic alterations most frequently observed are mutations of the choline acetyltransferase (CHAT) gene, located on chromosome 10q11.2. 3,4 Typically, CMS caused by CHAT mutations present in early infancy with respiratory distress and episodic apnea. The attacks of respiratory distress and apnea may be triggered by fever, infections, or stress.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review

et al. 2018

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Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations. Clinical manifestations usually provoked by infections and fever. CMS due to CHAT mutations are rare, but it is important to diagnosis. Early diagnosis and appropriate treatment can improve morbidity and mortality.

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Molecular characterization of congenital myasthenic syndromes in Spain

Cited by 10 publications

References 0 publications

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review

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