Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. Th...

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Veröffentlicht in:	Child neurology open 2018, Vol.5, p.2329048X18769811
Hauptverfasser:	Chiu, Annie Ting Gee, Chan, Sophelia Hoi Shan, Wu, Shun Ping, Ting, Shun Hin, Chung, Brian Hon Yin, Chan, Angel On Kei, Wong, Virginia Chun Nei
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Case Report Congestive heart failure Coronary artery disease Electromyography Frameshift mutation Genetic counseling Heart surgery Hypothyroidism Microencephaly Mutation Nerve conduction Neuromuscular diseases Paralysis Polyneuropathy Sensorimotor system Spinal muscular atrophy
Online-Zugang:	Volltext
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