Limb girdle muscular dystrophy with autosomal dominant inheritance. 1991

G Marconi, and A Pizzi, and C G Arimondi, and B Vannelli
Department of Neurology, University of Florence, Italy.

We describe a patient suffering from limb-girdle muscular dystrophy with autosomal dominant inheritance proved by the presence of other similar cases in both sexes scattered over 4 generations of his family tree. In all patients the symptoms appeared in adult age and pelvi-femoral preceded scapulo-humeral involvement. Clinical expressivity has been variable, but rather benign without any reduction in life expectancy. Myopathic changes with vacuoles were present in muscle on light and electron microscopic examination. In the literature we found at least another 5 genealogies with autosomal dominant LGMD which had similar clinical and pathological features to those of our patient.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010388 Pelvis The space or compartment surrounded by the pelvic girdle (bony pelvis). It is subdivided into the greater pelvis and LESSER PELVIS. The pelvic girdle is formed by the PELVIC BONES and SACRUM. Pelvic Region,Region, Pelvic
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies
D012782 Shoulder Part of the body in humans and primates where the arms connect to the trunk. The shoulder has five joints; ACROMIOCLAVICULAR joint, CORACOCLAVICULAR joint, GLENOHUMERAL joint, scapulathoracic joint, and STERNOCLAVICULAR joint. Shoulders

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