In:
Clinical Case Reports, Wiley, Vol. 4, No. 4 ( 2016-04), p. 425-428
Abstract:
Severe recessive mitochondrial myopathy caused by FBXL 4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.
Type of Medium:
Online Resource
ISSN:
2050-0904
,
2050-0904
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2740234-4
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