Associated Papers
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
Liu L et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1.
Zhou C et al.
Frontiers in Neurology, 2024
Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.
Pekuz S et al.
The Turkish Journal of Pediatrics, 2022
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).
Wu S et al.
European Journal of Medical Genetics, 2018
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L et al.
Neuromuscular Disorders : Nmd, 2017
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X et al.
Brain & Development, 2016
Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
Baughn J et al.
Pediatric Pulmonology, 2011
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