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Biomedical subjects

A B Gruber

Publications and source records attributed to A B Gruber.

4 recordsLinked to original sources
PubMed1987

MELAS syndrome involving a mother and two children.

Three familial cases of MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke) have been reported. We describe a family with four normal sons and an affected mother, son, and daughter. Although mitochondrial inheritance has been proposed, autosomal and X-linked dominant patterns are also possible. This family also illustrates the variability of expression of MELAS. The proband has the full syndrome, while the mother and daughter manifested less severe findings. All three did not develop symptoms until adulthood.

Acidosis, Lactic↗
PubMed1987

Mitochondrial myopathy presenting as temporomandibular dysfunction.

Three patients, all of whom presented with orofacial pain, were initially diagnosed as having temporomandibular dysfunction. Subsequent muscle biopsies proved they had an underlying pathologic abnormality. It is not inconceivable that a number of patients who present with facial pain, whether or not they respond to traditional therapeutic modalities, have an underlying systemic myopathy. The myopathy may be hereditary and the mode of inheritance may be unusual. Practitioners who treat patients with facial pain are cautioned to be aware of this possibility. Mitochondrial myopathy is probably one of a series of pathologic abnormalities that may be present.

Adult↗
PubMed1987

Acute and chronic demyelinating disease.

There are multiple entities subsumed under this title that have in common the primary destruction of central nervous system myelin with relative sparing of axons. The hereditary diseases are often referred to as dysmyelinating diseases in which there is a genetic defect in the formation or maintenance of myelin; they usually occur in children. The other processes are sometimes called myelinoclastic, which implies an attack on otherwise normal myelin.

Adolescent↗