Unusual inheritance of Becker type muscular dystrophy.

نویسندگان

  • L Aguilar
  • R Lisker
  • G G Ramos
چکیده

A family with Becker type muscular dystrophy is described, in which two females were severely affected, giving the family tree the appearance of dominant inheritance.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The Diagnostic Value of Utrophin in Mild Dystrophinopathy (Becker Muscular Dystrophy)

  Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...

متن کامل

Unusual type of benign x-linked muscular dystrophy.

Duchenne muscular dystrophy affects mainly young boys and is usually inherited as an X-linked recessive trait. The disease begins in infancy or early childhood and is characterized by weakness of the lower limbs and pelvic girdle musculature almost invariably associated with swollen calves ('pseudohypertrophy'). The weakness gradually progresses and ultimately the child becomes confined to a wh...

متن کامل

بیحسی داخل نخاعی با بوپیواکایین جهت جراحی سزارین اورژانسی

Aim and Background: Becker’s muscular dystrophy (BMD) is similar to the Duchenne’s muscular dystrophy, but the clinical course is milder.We introduced a patient with Becker Muscle Dystrophy who candidate for emergency cesarean section.Case report:A36-year-old woman, gestational age 31 weeks, with a history of Becker Muscle Dystrophy and fetal distress who candidate for emergency cesarean sectio...

متن کامل

Malignant hyperthermia-like episode in Becker muscular dystrophy.

HYPERKALEMIA and rhabdomyolysis after the use of succinylcholine and potent inhalation anesthetic agents has been reported in patients with Duchenne (DMD) and Becker muscular dystrophy (BMD). In addition, some patients with DMD are susceptible to malignant hyperthermia (MH) based on positive results of in vitro the halothane–caffeine contracture test (IVCT). We report an unusual case of hyperka...

متن کامل

Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy.

Duchenne type muscular dystrophy is a condition which begins in infancy or early childhood, and is characterized by progressive muscle weakness leading to death in the late teens or early twenties (Walton and Nattrass, I954). This type of muscular dystrophy has been variously referred to as 'pseudohypertrophic muscular dystrophy' (Bell, I948), 'progressive muscular dystrophy of childhood' (Step...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 15 2  شماره 

صفحات  -

تاریخ انتشار 1978