Familial Autosomal Recessive Rigid Spine Syndrome with Neurogenic Facio-scapulo-peroneal Muscle Atrophy

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1991 Jan 1

PMID 2010758

Citations 1

Authors

L Palmucci

T Mongini

C Doriguzzi

M Maniscalco

D Schiffer

Affiliations

Soon will be listed here.

Abstract

Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not show progression of the disease. This is the first observation of an association of neurogenic facio-scapulo-peroneal and rigid spine syndrome. The double first-cousin marriage suggests autosomal recessive inheritance.

Citing Articles

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C Am J Hum Genet. 1998; 62(6):1439-45.

PMID: 9585610 PMC: 1377161. DOI: 10.1086/301882.

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