A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene

2018 ◽  
pp. 81-83
Author(s):  
Muhsin Elmas ◽  
Basak Gogus
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Bethlem Myopathy

A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia

2020 ◽  
Author(s):  
Bülent Kara ◽  
Sedat Gül ◽  
Ayfer Sakarya Güneş ◽  
Serap Mülayim ◽  
Gözde Yeşil
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Axonal Neuropathy ◽  
Gene Mutations ◽  
Autosomal Recessive Inheritance ◽  
Muscle Stiffness ◽  
Adolescent Female ◽  
Recessive Inheritance ◽  
Exome Analysis

Abstract HINT1 gene mutations cause an axonal neuropathy with some specific findings including presence of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and primary motor involvement. We described an 18-year-old female patient who presented to the clinic with gait instability and muscle stiffness. A homozygous novel c.180_181delAT (p.Ser61Profs*8) variant in the HINT1 gene was found by clinical exome analysis. Parents were heterozygous for the same variant. The patient was diagnosed with autosomal recessive axonal neuropathy with neuromyotonia. The presence of neuromyotonia must be evaluated in patients with hereditary axonal neuropathies as this can help the diagnosis prior to genetic testing.

EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy

2009 ◽  
Vol 19 (8-9) ◽  
pp. 608
Author(s):  
A.R. Foley ◽  
J. Shoffner ◽  
R. Weiss ◽  
C.G. Bonnemann
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Bethlem Myopathy

scholarly journals Autosomal recessive inheritance of classic Bethlem myopathy

2009 ◽  
Vol 19 (12) ◽  
pp. 813-817 ◽  
Author(s):  
A. Reghan Foley ◽  
Ying Hu ◽  
Yaqun Zou ◽  
Alexandra Columbus ◽  
John Shoffner ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Bethlem Myopathy

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly
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