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First published 1997-01

D-2-Hydroxyglutaric Aciduria: Hypotonia,Cortical Blindness,Seizures,Cardiomyopathy,and Cylindrical Spirals in Skeletal Muscle

Noel S. Baker, Harvey B. Sarnat, Rhona M. Jack [...]

Journal of Child Neurology

Open access

Case report

First published 2025-11

Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant

Anthony Maino, Marie Chevallier, Diane Giovannini [...]

Journal of Neuromuscular Diseases

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Other

First published 2011-6

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

Manuel Castro-Gago, Carmen Gómez-Lado, Laura Pérez-Gay [...]

Journal of Child Neurology

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Other

First published 2007-01

Muscle Phosphofructokinase Deficiency With Neonatal Seizures and Nonprogressive Course

Zuhair N. Al-Hassnan, Mustafa Al Budhaim, Mohammed Al-Owain [...]

Journal of Child Neurology

Free access

Case report

First published 2020

Muscular,Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy

Rocío N. Villar-Quiles, Marta Gomez-Garcia de la Banda, Annie Barois [...]

Journal of Neuromuscular Diseases

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Research article

First published 2003-11

Thickness and Histologic and Histochemical Properties of the Superior Pharyngeal Constrictor Muscle in Velocardiofacial Syndrome

Shane Zim, Robert Schelper, Robert Kellman [...]

Facial Plastic Surgery & Aesthetic Medicine

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Research article

First published 2022-01-27

Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy

K. Oatmen, S. Camelo-Piragua, N. Zaghloul

Journal of Neonatal-Perinatal Medicine

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Other

First published 2011-2

Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study

Antonio Trabacca, Luciana Losito, Marta De Rinaldis [...]

Journal of Child Neurology

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Research article

First published 2015-3

A Pilot Study for Evaluation of Hypotonia in Children With Neurofibromatosis Type 1

Elizabeth A. Soucy, Lauren E. Wessel, Feng Gao [...]

Journal of Child Neurology

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Review article

First published 1984-3

Ventilatory Muscle Training

Richard L. Pardy, David E. Leith

Respiratory Care

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