Selective Type II Muscle Fiber Hypertrophy in Severe Infantile Spinal Muscular Atrophy

The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective...

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Veröffentlicht in:	Journal of child neurology 1991-10, Vol.6 (4), p.329-334
Hauptverfasser:	Kingma, Douglas W., Feeback, Daniel L., Marks, Warren A., Bobele, Gary B., Leech, Richard W., Brumback, Roger A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Humans Hypertrophy Infant Male Muscles - pathology Myelin Sheath - pathology Myofibrils - pathology Respiratory Insufficiency - genetics Respiratory Insufficiency - pathology Spinal Muscular Atrophies of Childhood - genetics Spinal Muscular Atrophies of Childhood - pathology Sural Nerve - pathology
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